Canonical Allele Identifier: CA388785800

Gene: F7

Linked Data

• gnomAD v4: 13-113118430-G-T
• MyVariant Identifiers: chr13:g.113772744G>T (hg19) ; chr13:g.113118430G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118430G>T , CM000675.2:g.113118430G>T	GRCh38
NC_000013.10:g.113772744G>T , CM000675.1:g.113772744G>T	GRCh37
NC_000013.9:g.112820745G>T	NCBI36
NG_009258.1:g.632G>T , LRG_548:g.632G>T
NG_009262.1:g.17640G>T , LRG_554:g.17640G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.757G>T MANE Select	ENSP00000329546.4:p.Glu253Ter
ENST00000346342.7:c.757G>T	ENSP00000329546.3:p.Glu253Ter
ENST00000375581.3:c.823G>T	ENSP00000364731.3:p.Glu275Ter
ENST00000541084.5:c.571G>T	ENSP00000442051.2:p.Glu191Ter
NM_000131.4:c.823G>T , LRG_554t1:c.823G>T	NP_000122.1:p.Glu275Ter
NM_001267554.1:c.571G>T	NP_001254483.1:p.Glu191Ter
NM_019616.3:c.757G>T , LRG_554t2:c.757G>T	NP_062562.1:p.Glu253Ter
NR_051961.1:n.844G>T
XM_006719963.2:c.616G>T	XP_006720026.1:p.Glu206Ter
XM_011537474.1:c.865G>T	XP_011535776.1:p.Glu289Ter
XM_011537475.1:c.679G>T	XP_011535777.1:p.Glu227Ter
XM_011537476.1:c.517G>T	XP_011535778.1:p.Glu173Ter
XM_011537477.1:c.826G>T	XP_011535779.1:p.Glu276Ter
XM_006719963.3:c.661G>T	XP_006720026.2:p.Glu221Ter
XM_011537474.2:c.910G>T	XP_011535776.2:p.Glu304Ter
XM_011537475.2:c.724G>T	XP_011535777.2:p.Glu242Ter
XM_011537476.2:c.517G>T	XP_011535778.1:p.Glu173Ter
NM_019616.4:c.757G>T MANE Select	NP_062562.1:p.Glu253Ter
NR_051961.2:n.841G>T
NM_001267554.2:c.571G>T	NP_001254483.1:p.Glu191Ter